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两名苯丙酮尿症患者出现硬皮病样皮肤病变。

Scleroderma-like skin lesions in two patients with phenylketonuria.

作者信息

Coşkun T, Ozalp I, Kale G, Göğüş S

机构信息

Division of Metabolism, Hacettepe University, Ankara, Turkey.

出版信息

Eur J Pediatr. 1990 Dec;150(2):109-10. doi: 10.1007/BF02072050.

DOI:10.1007/BF02072050
PMID:2279504
Abstract

Two patients with phenylketonuria and scleroderma-like skin lesions are presented. Since scleroderma is a rare collagen disease of childhood, the occurrence of these two disorders in the same patient does not seem to be coincidental but raises the possibility of a causal relationship. Improvement in the skin lesions of the patients after the commencement of a low-phenylalanine diet supports this hypothesis.

摘要

本文报告了两名患有苯丙酮尿症并伴有硬皮病样皮肤病变的患者。由于硬皮病是一种罕见的儿童胶原疾病,这两种病症在同一患者身上出现似乎并非偶然,而是提示了存在因果关系的可能性。患者在开始低苯丙氨酸饮食后皮肤病变有所改善,这支持了这一假说。

相似文献

1
Scleroderma-like skin lesions in two patients with phenylketonuria.两名苯丙酮尿症患者出现硬皮病样皮肤病变。
Eur J Pediatr. 1990 Dec;150(2):109-10. doi: 10.1007/BF02072050.
2
Phenylketonuria and scleroderma.苯丙酮尿症和硬皮病。
Arch Dermatol. 1978 Aug;114(8):1215-7.
3
Scleroderma-like skin indurations in a child with phenylketonuria: a clinicopathologic correlation and review of the literature.一名苯丙酮尿症患儿出现硬皮病样皮肤硬结:临床病理相关性及文献复习
J Am Acad Dermatol. 1992 Feb;26(2 Pt 2):329-33. doi: 10.1016/0190-9622(92)70048-k.
4
[Treatment of phenylketonuria coexisting with scleroderma].[苯丙酮尿症合并硬皮病的治疗]
Pediatr Pol. 1977 Apr;52(4):441-4.
5
[Pinocchio syndrome. Scleroderma-like lesions in phenylketonuria].[匹诺曹综合征。苯丙酮尿症中的硬皮病样病变]
Przegl Dermatol. 1973 Jan-Feb;60(1):49-56.
6
[Scleroderma-like skin and muscle changes in children with phenylketonuria].苯丙酮尿症患儿的硬皮病样皮肤和肌肉改变
Pediatr Pol. 1975 Dec;50(12):1441-6.
7
Phenylketonuria and scleroderma.苯丙酮尿症和硬皮病。
J Inherit Metab Dis. 1986;9(4):405-6. doi: 10.1007/BF01800498.
8
[Pseudoscleroderma or scleroderma coexisting with phenylketonuria].[假硬皮病或与苯丙酮尿症共存的硬皮病]
Ann Dermatol Syphiligr (Paris). 1972;99(3):257-62.
9
[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)].[硬皮病样皮损与苯丙酮尿症(PKU)。高苯丙氨酸血症的作用、饮食疗法的疗效(3例报告)]
Ann Dermatol Venereol. 1989;116(11):798-800.
10
[Pseudosclerodermatous lesions of the skin and muscles in a 19-month-old girl with phenylketonuria].[一名19个月大苯丙酮尿症女童的皮肤和肌肉假硬皮病样病变]
Pol Tyg Lek. 1989 Jan 23;44(4):99-100.

本文引用的文献

1
Intermediary metabolism of phenylalanine and tyrosine in diffuse collagen diseases. II. Influences of the low phenylalanine and tyrosine diet upon patients with collagen disease.弥漫性胶原病中苯丙氨酸和酪氨酸的中间代谢。II. 低苯丙氨酸和酪氨酸饮食对胶原病患者的影响。
Arch Dermatol. 1959 Oct;80:466-77. doi: 10.1001/archderm.1959.01560220076016.
2
Cutaneous findings in phenylketonuria.
Arch Dermatol. 1960 Jun;81:898-903. doi: 10.1001/archderm.1960.03730060014002.
3
Intermediary metabolism of phenylalanine and tyrosine in diffuse collagen diseases. I. The presence of 2,5-dihydroxyphenylpyruvic acid in the urine of patients with collagen disease.弥漫性胶原病中苯丙氨酸和酪氨酸的中间代谢。I. 胶原病患者尿液中2,5-二羟基苯丙酮酸的存在情况。
AMA Arch Derm. 1958 Mar;77(3):255-62. doi: 10.1001/archderm.1958.01560030001001.
4
Tryptophan metabolism in a patient with phenylketonuria and scleroderma: a proposed explanation of the indole defect in phenylketonuria.苯丙酮尿症和硬皮病患者的色氨酸代谢:对苯丙酮尿症中吲哚缺陷的一种解释
Can Med Assoc J. 1966 Apr 16;94(16):834-8.
5
Phenylketonuria and scleroderma.苯丙酮尿症和硬皮病。
J Pediatr. 1968 Oct;73(4):571-5. doi: 10.1016/s0022-3476(68)80272-0.
6
[Phenylketonuria with sclerodermic type infiltration].[伴有硬皮病样浸润的苯丙酮尿症]
Pediatrie. 1970 Oct-Nov;25(7):777-84.
7
[Pseudoscleroderma or scleroderma coexisting with phenylketonuria].[假硬皮病或与苯丙酮尿症共存的硬皮病]
Ann Dermatol Syphiligr (Paris). 1972;99(3):257-62.
8
Skin and muscle indurations in phenylketonuria.苯丙酮尿症中的皮肤和肌肉硬结
Arch Dermatol. 1967 May;95(5):443-50.
9
Phenylketonuria and scleroderma.苯丙酮尿症和硬皮病。
J Inherit Metab Dis. 1986;9(4):405-6. doi: 10.1007/BF01800498.
10
Phenylketonuria and scleroderma.苯丙酮尿症和硬皮病。
Arch Dermatol. 1978 Aug;114(8):1215-7.